Download or read book Neurofibromatosis Type 1 in Childhood written by Kathryn North and published by Cambridge University Press. This book was released on 1997-01-30 with total page 146 pages. Available in PDF, EPUB and Kindle. Book excerpt: A thoughtful and clinically valuable account which will aid both treatment of and research into this difficult disorder.
Download or read book Neurofibromatosis Type 1 written by Meena Upadhyaya and published by Springer Science & Business Media. This book was released on 2013-01-29 with total page 711 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurofibromatosis type 1 (NF1), caused by mutational inactivation of the NF1 tumour suppressor gene, is one of the most common dominantly inherited human disorders, affecting 1 in 3000 individuals worldwide. This book presents in concise fashion, but as comprehensively as possible, our current state of knowledge on the molecular genetics, molecular biology and cellular biology of this tumour predisposition syndrome. Written by internationally recognized experts in the field, the 44 chapters that constitute this edited volume provide the reader with a broad overview of the clinical features of the disease, the structure and expression of the NF1 gene, its germ line and somatic mutational spectra and genotype-phenotype relationships, the structure and function of its protein product (neurofibromin), NF1 modifying loci, the molecular pathology of NF1-associated tumours, animal models of the disease, psycho-social aspects and future prospects for therapeutic treatment.
Download or read book Neurocutaneous Syndromes in Children written by Paolo Curatolo and published by John Libbey Eurotext. This book was released on 2006 with total page 247 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurocutaneous Syndromes unify a group of rare neurological disorders in which the initial identification depends on simple visual disgnosis. They include a large group of neurological disorders which feature cutaneous and ocular lesions, brain malformations, central and peripheral brain tumours, mental retardation, seizures and psychiatric problems. In the last few years, our knowledge of neurocutaneous syndromes has increased substantially. The aim of this volume is to provide an updated developmental perspective on these multifaceted conditions and to review their major clinical features, in particular their embryological basis, clinical molecular genetics, diagnostic protocols and novel therapeutic approaches.
Download or read book Genetics of Endocrine Diseases and Syndromes written by Peter Igaz and published by Springer Nature. This book was released on 2019-10-06 with total page 476 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a comprehensive overview of the genetic basis underlying endocrine diseases. It covers both the molecular and clinical consequences of these genetic defects, as well as the relevance for clinical care, highlighting issues of genetic counseling. Several endocrine diseases have a genetic background, and contemporary research in the field plays a crucial role in the clinical care of endocrine diseases. In recent years, there have been major developments in our understanding of the genetic basis of endocrine diseases. Several novel genes and mutations predisposing individuals to monogenic endocrine diseases have been discovered, and with the advent of next generation sequencing, a huge amount of new data has become available. Further, novel molecular mechanisms, such as genomic imprinting, have been implicated in the pathogenesis of endocrine diseases. A better understanding of the genetic background of these diseases is relevant not only from the research perspective, but also in terms of clinical care. As such, this book is an essential read for both researchers and clinicians working in the field.
Download or read book Helping Your Nf1 Child written by Christopher Maloney and published by Createspace Independent Publishing Platform. This book was released on 2017-01-22 with total page 54 pages. Available in PDF, EPUB and Kindle. Book excerpt: For the parents of NF1 children or newly diagnosed adults, Dr. Maloney covers the genetics of NF1 simply. He shows why the disease varies so widely in its symptoms and gives cutting edge research possibilities for its treatment.
Download or read book Atlas of Pediatric Brain Tumors written by Adekunle M. Adesina and published by Springer. This book was released on 2016-10-03 with total page 327 pages. Available in PDF, EPUB and Kindle. Book excerpt: This text was created to fill a void in the practice of pediatric neuropathology. It is a practical and well-illustrated book representing a collection of interesting, common and unusual tumors for a diagnostic exercise by the reader. The wide reception of the first edition by the pathology community is testament to its relevance and utility in the pathologic diagnosis of pediatric brain tumors. This edition covers topics ranging from neuroimaging, the use of crush and touch preps during intraoperative consultation, classic histological features of pediatric brain tumors, tumor variants, and a miscellaneous group of challenging tumors. Chapters consist of essential diagnostic information and features highlighting recognized variants and their differential diagnoses. A section on molecular pathology and electron microscopy is also included for each tumor category, along with a list of classic reviews and innovative articles on each of the tumor entities as suggested reading at the end of each chapter. Atlas of Pediatric Brain Tumors, Second Edition represents the state of the art in pediatric neuropathology with easy utility beside the microscope.
Download or read book Multidisciplinary Approach to Neurofibromatosis Type 1 written by Gianluca Tadini and published by Springer Nature. This book was released on 2020-06-02 with total page 316 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume offers an update of the clinical signs, diagnostic criteria (including molecular diagnosis) and targeted therapies for a particular type of genodermatosis, providing a handy and unique tool for early diagnosis. In recent years, our understanding of genodermatosis and neurocutaneous syndromes has increased, but although Type 1 Neurofibromatosis (NF1) is the most common neuroectodermal disorder and involves a large number of patients and medical disciplines, this syndrome remains underestimated, often misdiagnosed thus leading to inaccurate treatment. The literature on the molecular and pathogenetic aspects is ample, but current clinical approaches, classification, diagnostic criteria and treatment protocols are outdated, creating difficulties in early diagnosis and treatment. As such, a chapter is devoted renewing current diagnostic criteria; it includes clinical and molecular data, to offer a sound, updated discussion basis for a consensus conference. NF1 is a “time-dependent” disorder, meaning that the onset of clinical signs are closely linked to patient age and the book discusses this particularly neglected aspect extensively, as well as the latest molecular diagnosis techniques, which are highly sensitive have not been included in the diagnostic criteria. It also explains the role of the RAS-MAPK pathway and genotype-phenotype correlations. In addition it explores new concepts concerning the pathogenesis of neurofibromas and other hamarthomas and their relevance for a modern therapeutical approach with targeted molecular drugs, as well as newly discovered aspects of NF1 in all internal organs, together with their diagnostic counterparts. A chapter on mosaic neurofibromatosis is also included. There is a particular focus on differential diagnosis (i.e. other diseases with café-au-lait macules), and the recently described Legius syndrome will be presented directly by Prof Eric Legius. All chapters are easy-to-understand, up-to-date, comprehensive and concise tools and are intended for a wide range of professionals involved with genetic disorders of the skin and neurocutaneous diseases: dermatologists, pediatricians, neurologists, oncologists and general practitioners.
Download or read book Living with Genetic Disorder written by Joan Ablon and published by Praeger. This book was released on 1999-08-30 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: A chronicle of the life experiences of adults with neurofibromatosis 1, a neurological genetic condition for many years misdiagnosed as "The Elephant Man's Disease." Affected persons deal with an unpredictable and potentially stigmatizing disorder, the symptoms of which range from physical disfigurement to severe learning disorders. Ablon offers suggestions for families, support systems, and health care providers to enhance coping skills and self image of the affected persons.
Download or read book Neurology in Clinical Practice written by Walter George Bradley and published by . This book was released on 2004 with total page 1672 pages. Available in PDF, EPUB and Kindle. Book excerpt: New edition, completely rewritten, with new chapters on endovascular surgery and mitochrondrial and ion channel disorders.
Download or read book Neurofibromatosis written by Bruce R. Korf and published by Thieme. This book was released on 2011-01-01 with total page 268 pages. Available in PDF, EPUB and Kindle. Book excerpt: Here is the state-of-the-art on recognizing, managing and living with neurofibromatosis (NF) for patients, families, and health care professionals. From new genetic and diagnostic advances, to associated cardiovascular and endocrine abnormalities, to the significant psychosocial impact of NF, the book is packed with clear, practical guidance for understanding and living with this disability.Special features: A complete diagnostic guide to help you recognize NF-related symptoms--with a timeline for when they might appear New treatment options for NF, including pain control Coverage of the newly discovered form of NF, schwannomatosis Personal perspectives from NF patients and their families Glossary that defines medical terminology With the great diagnostic and treatment advances achieved in the last decade, and research proceeding rapidly, the future for patients with NF has never been brighter. For all individuals living with the challenges of this disability, the book brings you to the forefront of medical knowledge. Make sure it is within close reach for fast and easy reference.
Download or read book Pediatric Neuro oncology written by Katrin Scheinemann and published by Springer. This book was released on 2024-09-22 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: While the first edition of this book provided a succinct introduction to pediatric neuro-oncology, biological knowledge of childhood CNS tumors has “exploded” over the past few years and a new edition of this textbook is needed to keep it up-to-date. This updated edition will include chapters on cancer predisposition in children with brain tumors, gliomas, embryonal brain tumors, ependymoma, CNS-GCT, targeted therapies in pediatric brain tumors, and long-term sequelae. New developments covered include the following: - Techniques like DNA methylation have improved the diagnostic process, and have led to an integrated diagnosis of histology, ICH and methylation. - Tumor pathways have been detected, which defines more subgroups within a tumor entity, and results in more individualized treatment for the patient. - Therapeutic options outside the standard combination of surgery, chemotherapy, and radiation have either been implemented within the last years, or are currently under consideration. This book will be aimed at pediatric oncologists and neurooncologists, neurosurgeons, radiation oncologists. Chapters detailing quality of life and supportive care will make this 2nd edition a useful resource for nurses, social workers, physiotherapists, and occupational therapists alike.
Download or read book Genetics of Bone Biology and Skeletal Disease written by Rajesh V. Thakker and published by Academic Press. This book was released on 2017-10-31 with total page 880 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics of Bone Biology and Skeletal Disease, Second Edition, is aimed at students of bone biology and genetics and includes general introductory chapters on bone biology and genetics. More specific disease orientated chapters comprehensively summarize the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder. The book is organized into five sections that each emphasize a particular theme, general background to bone biology, general background to genetics and epigenetics, disorders of bone and joint, parathyroid and related disorders, and vitamin D and renal disorders. The first section is specifically devoted to providing an overview of bone biology and structure, joint and cartilage biology, principles of endocrine regulation of bone, and the role of neuronal regulation and energy homeostasis. The second section reviews the principles and progress of medical genetics and epigenetics related to bone disease, including genome-wide association studies (GWAS), genomic profiling, copy number variation, prospects of gene therapy, pharmacogenomics, genetic testing and counseling, as well as the generation and utilizing of mouse models. The third section details advances in the genetics and molecular biology of bone and joint diseases, both monogenic and polygenic, as well as skeletal dysplasias, and rarer bone disorders. The fourth section highlights the central role of the parathyroids in calcium and skeletal homeostasis by reviewing the molecular genetics of: hyperparathyroidism, hypoparathyrodism, endocrine neoplasias, and disorders of the PTH and calcium-sensing receptors. The fifth section details molecular and cellular advances across associated renal disorders such as vitamin D and rickets. Identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluation of treatments Demonstrates how the interactions between bone and joint biology, physiology, and genetics have greatly enhanced the understanding of normal bone function as well as the molecular pathogenesis of metabolic bone disorders Summarizes the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder
Download or read book Neurofibromatosis Type 1 written by Kathryn North and published by . This book was released on 1993 with total page 334 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book The Kidscreen Questionnaires written by Ulrike Ravens-Sieberer and published by . This book was released on 2006 with total page 231 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Diagnosis Management and Modeling of Neurodevelopmental Disorders written by Colin R. Martin and published by Academic Press. This book was released on 2021-05-29 with total page 624 pages. Available in PDF, EPUB and Kindle. Book excerpt: Diagnosis, Management and Modeling of Neurodevelopmental Disorders: The Neuroscience of Development is a comprehensive reference on the diagnosis and management of neurodevelopment and associated disorders. The book discusses the mechanisms underlying neurological development and provides readers with a detailed introduction to the neural connections and complexities in biological circuitries, as well as the interactions between genetics, epigenetics and other micro-environmental processes. In addition, the book also examines the pharmacological and non-pharmacological interventions of development-related conditions. Provides the most comprehensive coverage of the broad range of topics relating to the neuroscience of aging Features sections on the genetics that influences aging and diseases of aging Contains an abstract, key facts, a mini dictionary of terms, and summary points in each chapter Focuses on neurological diseases and conditions linked to aging, environmental factors and clinical recommendations Includes more than 500 illustrations and tables
Download or read book Motor Skills and Their Foundational Role for Perceptual Social and Cognitive Development written by Klaus Libertus and published by Frontiers Media SA. This book was released on 2017-05-18 with total page 295 pages. Available in PDF, EPUB and Kindle. Book excerpt: Motor skills are a vital part of healthy development and are featured prominently both in physical examinations and in parents’ baby diaries. It has been known for a long time that motor development is critical for children’s understanding of the physical and social world. Learning occurs through dynamic interactions and exchanges with the physical and the social world, and consequently movements of eyes and head, arms and legs, and the entire body are a critical during learning. At birth, we start with relatively poorly developed motor skills but soon gain eye and head control, learn to reach, grasp, sit, and eventually to crawl and walk on our own. The opportunities arising from each of these motor milestones are profound and open new and exciting possibilities for exploration and interactions, and learning. Consequently, several theoretical accounts of child development suggest that growth in cognitive, social, and perceptual domains are influences by infants’ own motor experiences. Recently, empirical studies have started to unravel the direct impact that motor skills may have other domains of development. This volume is part of this renewed interest and includes reviews of previous findings and recent empirical evidence for associations between the motor domain and other domains from leading researchers in the field of child development. We hope that these articles will stimulate further research on this interesting question.
Download or read book Textbook of Pediatric Neurosurgery written by Concezio Di Rocco and published by Springer. This book was released on 2020-07-14 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book documents the state of the art in pediatric neurosurgery with the intention of providing a comprehensive guide to the management of the full range of pediatric neurosurgical disorders that will aid in the delivery of optimal care. Detailed practical instruction, taking into account recent advances, is provided on the neurosurgical treatment of congenital brain malformations, cerebrovascular diseases, head injuries and spinal trauma, infections, functional disorders, congenital and developmental spinal disorders, and brain and spinal tumors. Pearls and pitfalls are highlighted, and attention drawn to the most useful tips and tricks. Information is also included on relevant related topics, including the principles of neuroimaging, the physiological responses of newborns, infants, and children to neurosurgical trauma, preoperative evaluation, anesthesiology and intensive care, and other forms of therapy. The authors are renowned experts in the field, and the text is supported by a wealth of high-quality images. Handbook of Pediatric Neurosurgery will be of value for neurosurgeons of all levels of experience, as well as for pediatricians, neuroradiologists, neuropathologists, and neuro-oncologists.
